Peter Robinson

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Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéVerificeret mail på molgen.mpg.de
Sebastian KöhlerExpert AI engineer, Ada Health; Member of Monarch InitiativeVerificeret mail på ada.com
Christopher J MungallLawrence Berkeley National LaboratoryVerificeret mail på lbl.gov
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsVerificeret mail på uni-bonn.de
Damian SmedleyQueen Mary University of LondonVerificeret mail på qmul.ac.uk
Sebastian BauerVerificeret mail på sebastianbauer.info
Yskert von KodolitschVerificeret mail på uke.de
Giorgio ValentiniComputer Science Dept. - University of MilanVerificeret mail på di.unimi.it
Marten JägerInstitut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facilityVerificeret mail på charite.de
Suzanna LewisLawrence Berkeley National LaboratoryVerificeret mail på lbl.gov
Tudor GrozaBioinformatics Institute, A*STARVerificeret mail på bii.a-star.edu.sg
Claus-Eric OttInstitute for Medical Genetics and Human GeneticsVerificeret mail på charite.de
Nicole L WashingtonHelixVerificeret mail på helix.com
Julie A McMurryUniversity of North Carolina at Chapel HillVerificeret mail på unc.edu
Sandra C. Wilson (Doelken)Department of Human Genetics, UKE, University of HamburgVerificeret mail på medizinische-genetik.de
Gao GuoUniversity of Alabama at BirminghamVerificeret mail på uabmc.edu
Dominik SeelowProfessor of Bioinformatics and Translational Genetics, Berliner Institut für GesundheitsforschungVerificeret mail på bih-charite.de
Nicole VasilevskyCritical Path InstituteVerificeret mail på c-path.org
Uwe KornakUniversitaetsmedizin GöttingenVerificeret mail på med.uni-goettingen.de
Gareth BaynamClinical Professor, Faculty of Medicine and Health Sciences, University of WesternVerificeret mail på health.wa.gov.au

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Peter Robinson

Berlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany

Verificeret mail på bih-charite.de - Startside

Computational biology Machine Learning Ontologies Human genetics


Titel Sortér efter henvisninger Sortér efter årstal Sortér efter titel	Citeret af Citeret af	År
Walking the interactome for prioritization of candidate disease genes S Köhler, S Bauer, D Horn, PN Robinson The American Journal of Human Genetics 82 (4), 949-958, 2008	1369	2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos The American Journal of Human Genetics 83 (5), 610-615, 2008	1097	2008
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014	947	2014
The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021	866	2021
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019	742	2019
The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017	653	2017
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ... The American Journal of Human Genetics 81 (3), 454-466, 2007	633	2007
Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009	580	2009
Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration S Bauer, S Grossmann, M Vingron, PN Robinson Bioinformatics 24 (14), 1650-1651, 2008	578	2008
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021	530	2021
The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015	525	2015
The molecular genetics of Marfan syndrome and related disorders PN Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, ... Journal of medical genetics 43 (10), 769-787, 2006	524	2006
Deep phenotyping for precision medicine PN Robinson Human mutation 33 (5), 777-780, 2012	519	2012
The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment MA Haendel, CG Chute, TD Bennett, DA Eichmann, J Guinney, WA Kibbe, ... Journal of the American Medical Informatics Association 28 (3), 427-443, 2021	499	2021
An expanded evaluation of protein function prediction methods shows an improvement in accuracy Y Jiang, TR Oron, WT Clark, AR Bankapur, D D’Andrea, R Lepore, ... Genome biology 17, 1-19, 2016	444	2016
International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017	440	2017
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020	435	2020
Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis S Grossmann, S Bauer, PN Robinson, M Vingron Bioinformatics 23 (22), 3024-3031, 2007	431	2007
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ... Human mutation 22 (3), 199-208, 2003	426	2003
The molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Journal of medical genetics 37 (1), 9-25, 2000	418	2000

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